Canonical Allele Identifier: CA483894694

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518317C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944181C>T , CM000675.2:g.51944181C>T	GRCh38
NC_000013.10:g.52518317C>T , CM000675.1:g.52518317C>T	GRCh37
NC_000013.9:g.51416318C>T	NCBI36
NG_008806.1:g.72314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1627G>A	ENSP00000489512.2:n.*894-1627G>A
ENST00000673864.2:c.*1915G>A	ENSP00000501045.2:n.*1915G>A
ENST00000674147.2:c.2550G>A	ENSP00000500964.2:p.Leu850=
ENST00000242839.10:c.3171G>A MANE Select	ENSP00000242839.5:p.Leu1057=
ENST00000344297.9:c.2550G>A	ENSP00000342559.5:p.Leu850=
ENST00000400366.6:c.2838G>A	ENSP00000383217.3:p.Leu946=
ENST00000448424.7:c.2919G>A	ENSP00000416738.3:p.Leu973=
ENST00000673772.1:c.2937G>A	ENSP00000501168.1:p.Leu979=
ENST00000673867.1:n.3310G>A
ENST00000674126.1:n.3534G>A
ENST00000674147.1:c.2106G>A	ENSP00000500964.1:p.Leu702=
ENST00000242839.8:c.3171G>A	ENSP00000242839.4:p.Leu1057=
ENST00000344297.8:c.2550G>A	ENSP00000342559.5:p.Leu850=
ENST00000400366.5:c.2838G>A	ENSP00000383217.3:p.Leu946=
ENST00000400370.8:c.1881G>A	ENSP00000383221.3:p.Leu627=
ENST00000418097.7:c.2976G>A	ENSP00000393343.2:p.Leu992=
ENST00000448424.6:c.2937G>A	ENSP00000416738.2:p.Leu979=
ENST00000466629.1:n.391G>A
ENST00000634296.1:c.1022-1627G>A
ENST00000634308.1:c.*272G>A	ENSP00000489234.1:n.*272G>A
ENST00000634620.1:n.3915G>A
ENST00000634810.1:n.2516G>A
ENST00000634844.1:c.3027G>A	ENSP00000489398.1:p.Leu1009=
NM_000053.3:c.3171G>A	NP_000044.2:p.Leu1057=
NM_001005918.2:c.2550G>A	NP_001005918.1:p.Leu850=
NM_001243182.1:c.2838G>A	NP_001230111.1:p.Leu946=
XM_005266423.2:c.3075G>A	XP_005266480.1:p.Leu1025=
XM_005266424.3:c.3075G>A	XP_005266481.1:p.Leu1025=
XM_005266427.2:c.2937G>A	XP_005266484.1:p.Leu979=
XM_005266428.1:c.2919G>A	XP_005266485.1:p.Leu973=
XM_005266430.3:c.3171G>A	XP_005266487.1:p.Leu1057=
XM_005266431.2:c.3135G>A	XP_005266488.1:p.Leu1045=
XM_005266432.2:c.2685G>A	XP_005266489.1:p.Leu895=
XM_006719837.2:c.3075G>A	XP_006719900.1:p.Leu1025=
XM_006719838.1:c.987G>A	XP_006719901.1:p.Leu329=
XM_006719839.1:c.877-1627G>A	XP_006719902.1:n.877-1627G>A
XM_011535117.1:c.3075G>A	XP_011533419.1:p.Leu1025=
XM_011535118.1:c.3036G>A	XP_011533420.1:p.Leu1012=
XM_011535119.1:c.3061-1627G>A	XP_011533421.1:n.3061-1627G>A
XM_011535120.1:c.2757G>A	XP_011533422.1:p.Leu919=
XM_011535121.1:c.2731-1627G>A	XP_011533423.1:n.2731-1627G>A
XM_011535122.1:c.1839G>A	XP_011533424.1:p.Leu613=
XR_941601.1:n.3390G>A
XR_941602.1:n.3390G>A
XR_941603.1:n.3390G>A
XR_941604.1:n.3390G>A
NM_001330578.1:c.2937G>A	NP_001317507.1:p.Leu979=
NM_001330579.1:c.2919G>A	NP_001317508.1:p.Leu973=
XM_005266424.4:c.3075G>A	XP_005266481.1:p.Leu1025=
XM_005266430.4:c.3171G>A	XP_005266487.1:p.Leu1057=
XM_005266431.4:c.3135G>A	XP_005266488.1:p.Leu1045=
XM_006719837.3:c.3075G>A	XP_006719900.1:p.Leu1025=
XM_011535117.3:c.3075G>A	XP_011533419.1:p.Leu1025=
XM_017020627.1:c.3075G>A	XP_016876116.1:p.Leu1025=
NM_000053.4:c.3171G>A MANE Select	NP_000044.2:p.Leu1057=
NM_001005918.3:c.2550G>A	NP_001005918.1:p.Leu850=
NM_001330579.2:c.2919G>A	NP_001317508.1:p.Leu973=
NM_001243182.2:c.2838G>A	NP_001230111.1:p.Leu946=
NM_001330578.2:c.2937G>A	NP_001317507.1:p.Leu979=